Genetic Disorders We Test For

Core Conditions

• X-linked Adrenoleukodystrophy
• Infantile Globoid Cell Leukodystrophy (Krabbe)
• Spinal Muscular Atrophy (SMA)
• Mucopolysaccharidosis Type I (MPS I) + Fuller method
• Mucopolysaccharidosis Type II (MPS II) + Fuller method
• Propionic acidemia
• Isovaleric acidemia
• Glutaric acidemia type I
• 3-Hydroxy-3-methyglutaric aciduria
• Argininosuccinic aciduria
• Methylmalonic acidemia (methylmalonyl-CoA mutase)
• Methylmalonic acidemia (cobalamin disorders)
• Holocarboxylase synthase deficiency
• 3-Methylcrotonyl-CoA carboxylase deficiency
• Guanidinoacetate Methyltransferase Deficiency (GAMT)
• β-Ketothiolase deficiency
• Medium-chain acyl-CoA dehydrogenase deficiency
• Very long-chain acyl-CoA dehydrogenase deficiency
• Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
• Trifunctional protein deficiency
• Biotinidase deficiency
• Carnitine uptake defect/carnitine transport defect
• Citrullinemia, type I
• Maple syrup urine disease
• Homocystinuria
• Classic phenylketonuria
• Tyrosinemia, type I
• Primary congenital hypothyroidism
• Congenital adrenal hyperplasia
• S,S disease (Sickle cell anemia)
• S, β-thalassemia
• S,C disease
• Cystic fibrosis (CF 338)
• Classic galactosemia
• Severe Combined Immunodeficiences
• Pompe Disease

Secondary Conditions

• Methylmalonic acidemia with homocystinuria
• Malonic acidemia
• Isobutyrylglycinuria
• 2-Methylbutyrylglycinuria
• 3-Methylglutaconic aciduria
• 2-Methyl-3-hydroxybutyric aciduria
• Short-chain acyl-CoA dehydrogenase deficiency
• Medium/short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
• Glutaric acidemia type II
• Medium-chain ketoacyl-CoA thiolase deficiency
• 2,4 Dienoyl-CoA reductase deficiency
• Carnitine palmitoyltransferase type I deficiency
• Carnitine palmitoyltransferase type II deficiency
• Carnitine acylcarnitine translocase deficiency
• Argininemia
• Citrullinemia, type II
• Hypermethioninemia
• Benign hyperphenylalaninemia
• Biopterin defect in cofactor biosynthesis
• Biopterin defect in cofactor regeneration
• Tyrosinemia, type II
• Tyrosinemia, type III
• Various other hemoglobinopathies
• Galactoepimerase deficiency
• Galactokinase deficiency
• T-cell related lymphocyte deficiencies